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DOID:0070044 - Coffin-Siris syndrome 2
Disease Ontology Definition:An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11.
Synonyms: CSS2, MRD14, autosomal dominant mental retardation 14,
Echinobase Genes :
MIM:614607 - mental retardation, autosomal dominant 14; mrd14 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee